Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.

ABSTRACT: This study aimed to explore the neurobiological mechanism underlying intellectual disability (ID) in patients with Waardenburg syndrome (WS) identified in a Chinese family. The proband was initially diagnosed with severe ID and then 10 of the 11 extended family members underwent further medical examinations (I-1 declined to be examined). Whole-exome sequencing (WES) revealed that 6 (II-1, II-3, III-1, III-4, III-5, and III-6) of the members share the pathogenic variant of c.230 C > G of SNAI2 (also known as SLUG), a causing gene of WS. All of the mutation carriers in the third generation presented moderate to severe ID, along with severe anxiety, mild level of depression, and serious social dysfunction. But they did not show any signs of hearing loss and heterochromia iris, which are consi

SUBMITTER: Xue C 

PROVIDER: S-EPMC12514258 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature